Incidental Mutation 'R6218:Dnaaf3'
ID503840
Institutional Source Beutler Lab
Gene Symbol Dnaaf3
Ensembl Gene ENSMUSG00000055809
Gene Namedynein, axonemal assembly factor 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.566) question?
Stock #R6218 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location4522933-4532453 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4523672 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 469 (S469T)
Ref Sequence ENSEMBL: ENSMUSP00000092498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094897] [ENSMUST00000098859] [ENSMUST00000140424] [ENSMUST00000154913] [ENSMUST00000209148]
Predicted Effect probably benign
Transcript: ENSMUST00000094897
AA Change: S469T

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092498
Gene: ENSMUSG00000055809
AA Change: S469T

DomainStartEndE-ValueType
Pfam:DUF4470 16 122 1.3e-27 PFAM
Pfam:DUF4471 154 436 5.3e-104 PFAM
internal_repeat_1 467 512 1.63e-5 PROSPERO
internal_repeat_1 525 568 1.63e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000098859
SMART Domains Protein: ENSMUSP00000096458
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1e-10 PFAM
Pfam:Troponin 47 178 3.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132621
Predicted Effect probably benign
Transcript: ENSMUST00000140424
SMART Domains Protein: ENSMUSP00000115015
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 1.1e-14 PFAM
Pfam:Troponin 47 125 3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150166
Predicted Effect probably benign
Transcript: ENSMUST00000154913
SMART Domains Protein: ENSMUSP00000122916
Gene: ENSMUSG00000035458

DomainStartEndE-ValueType
Pfam:Troponin-I_N 1 32 9e-15 PFAM
Pfam:Troponin 47 112 1.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205662
Predicted Effect probably benign
Transcript: ENSMUST00000209148
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies and immotile respiratory cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,904 Q38K probably benign Het
9930111J21Rik2 A T 11: 49,019,307 N766K probably benign Het
Adam15 A C 3: 89,343,883 I505S probably benign Het
Apc2 T C 10: 80,306,420 M391T probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bclaf1 A G 10: 20,334,628 S840G probably benign Het
Cacna2d4 A G 6: 119,239,060 Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,747,928 probably null Het
Ddhd1 A G 14: 45,614,176 L141P probably damaging Het
Dzip3 A T 16: 48,958,465 M323K possibly damaging Het
E430018J23Rik C T 7: 127,393,409 A10T possibly damaging Het
Eci2 T A 13: 34,993,065 probably null Het
Fam109b T A 15: 82,343,716 H145Q probably benign Het
Fam227b A T 2: 126,126,962 V64E probably damaging Het
Galnt2 A G 8: 124,343,315 I524V probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm14548 A T 7: 3,894,032 S602T possibly damaging Het
Gm3443 T A 19: 21,555,746 S25T probably damaging Het
Gpr22 T A 12: 31,711,617 K14* probably null Het
Grip1 T C 10: 119,986,346 S405P possibly damaging Het
Helz2 C A 2: 181,232,294 V2136L probably benign Het
Helz2 T C 2: 181,235,945 H1020R probably damaging Het
Il1f5 G A 2: 24,277,490 probably benign Het
Iqsec1 T A 6: 90,689,635 S607C probably damaging Het
Klhl2 A T 8: 64,752,767 Y373* probably null Het
L3mbtl3 T C 10: 26,292,747 I595V unknown Het
Large2 T C 2: 92,370,636 D65G probably damaging Het
Lrrfip1 T C 1: 91,082,159 Y122H probably damaging Het
Map1b A T 13: 99,433,206 D1002E unknown Het
Mink1 C T 11: 70,598,894 T59I possibly damaging Het
Mrvi1 G A 7: 110,876,905 T819M probably benign Het
Myo7b T C 18: 31,959,454 N2097D probably benign Het
Nbea C A 3: 55,628,484 C2893F probably damaging Het
Nlgn1 A T 3: 25,436,093 V490E probably damaging Het
Olfr1230 G T 2: 89,296,962 H103N probably damaging Het
Olfr131 A G 17: 38,082,729 M83T probably damaging Het
Olfr1318 T C 2: 112,156,356 I135T probably damaging Het
Olfr1369-ps1 G A 13: 21,116,231 E180K probably damaging Het
Olfr730 C A 14: 50,186,678 D180Y probably damaging Het
Pctp A G 11: 89,987,318 I130T probably benign Het
Pdcl3 T C 1: 38,988,071 probably null Het
Pkp1 T C 1: 135,879,908 K541E probably damaging Het
Plekhh2 G A 17: 84,591,564 V990I probably benign Het
Ppp1r3a A T 6: 14,718,431 V828D probably damaging Het
Prrc2b T C 2: 32,208,811 Y712H probably damaging Het
Prune2 T C 19: 17,121,562 S1477P probably benign Het
Psma5 A G 3: 108,279,802 K239R probably benign Het
Rhobtb1 G C 10: 69,270,456 A284P probably benign Het
Samsn1 G A 16: 75,945,274 noncoding transcript Het
Scel A G 14: 103,572,042 T273A probably benign Het
Slc22a5 T A 11: 53,891,618 probably benign Het
Slc25a37 A T 14: 69,249,504 M110K possibly damaging Het
Slc6a2 A T 8: 92,981,981 M242L probably benign Het
Slc8a3 C A 12: 81,199,567 W904L probably benign Het
Ss18l1 G A 2: 180,055,112 V109I probably benign Het
Tbx5 C T 5: 119,853,598 H245Y probably damaging Het
Thumpd2 C A 17: 81,052,913 L244F probably damaging Het
Tmem107 T A 11: 69,071,415 V66E probably damaging Het
Tnr T C 1: 159,888,314 V882A possibly damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttbk1 A G 17: 46,470,807 V340A possibly damaging Het
Veph1 T C 3: 66,255,060 E59G probably damaging Het
Vmn1r234 T A 17: 21,229,721 M299K possibly damaging Het
Vps13b T C 15: 35,770,464 Y2018H probably benign Het
Zbtb11 A G 16: 55,998,073 E620G probably benign Het
Zfp418 A G 7: 7,182,628 H530R possibly damaging Het
Other mutations in Dnaaf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Dnaaf3 APN 7 4527497 missense probably damaging 1.00
IGL02319:Dnaaf3 APN 7 4523947 missense probably damaging 1.00
IGL02805:Dnaaf3 APN 7 4523705 missense possibly damaging 0.64
R1818:Dnaaf3 UTSW 7 4523569 unclassified probably null
R1818:Dnaaf3 UTSW 7 4523570 missense probably benign 0.35
R2063:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2064:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2066:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2068:Dnaaf3 UTSW 7 4523799 missense possibly damaging 0.87
R2132:Dnaaf3 UTSW 7 4523801 missense probably benign 0.00
R2363:Dnaaf3 UTSW 7 4532277 critical splice acceptor site probably null
R4710:Dnaaf3 UTSW 7 4526494 missense probably damaging 1.00
R4803:Dnaaf3 UTSW 7 4526904 missense probably benign 0.14
R4939:Dnaaf3 UTSW 7 4527145 missense probably damaging 1.00
R5487:Dnaaf3 UTSW 7 4523865 splice site probably null
R5846:Dnaaf3 UTSW 7 4523687 missense possibly damaging 0.73
R6084:Dnaaf3 UTSW 7 4524213 missense probably benign 0.00
R6576:Dnaaf3 UTSW 7 4523380 missense probably benign 0.41
R6916:Dnaaf3 UTSW 7 4527533 missense probably damaging 1.00
R7219:Dnaaf3 UTSW 7 4528077 missense probably damaging 1.00
Z1088:Dnaaf3 UTSW 7 4523795 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TACAGGCAGGACTAGCTTAGC -3'
(R):5'- CCAAGGAGTTGAAGGCGTTC -3'

Sequencing Primer
(F):5'- CAGCTTTGGATGGGCTCAAC -3'
(R):5'- CTCTGACCGCGTTGTAGAGATAGC -3'
Posted On2018-02-27